Canonical Allele Identifier: CA1628469280

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627005_51627006delinsAC , CM000668.2:g.51627005_51627006delinsAC	GRCh38
NC_000006.11:g.51491803_51491804delinsAC , CM000668.1:g.51491803_51491804delinsAC	GRCh37
NC_000006.10:g.51599762_51599763delinsAC	NCBI36
NG_008753.1:g.465620_465621delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11776_11777delinsGT MANE Select	ENSP00000360158.3:p.Val3926=
ENST00000371117.7:c.11776_11777delinsGT	ENSP00000360158.3:p.Val3926=
NM_138694.3:c.11776_11777delinsGT	NP_619639.3:p.Val3926=
XM_011514679.1:c.11776_11777delinsGT	XP_011512981.1:p.Val3926=
XM_011514680.1:c.11776_11777delinsGT	XP_011512982.1:p.Val3926=
XM_011514681.1:c.11647_11648delinsGT	XP_011512983.1:p.Val3883=
XM_011514682.1:c.11638_11639delinsGT	XP_011512984.1:p.Val3880=
XM_011514683.1:c.11134_11135delinsGT	XP_011512985.1:p.Val3712=
XM_011514684.1:c.11065_11066delinsGT	XP_011512986.1:p.Val3689=
XM_011514690.1:c.5851_5852delinsGT	XP_011512992.1:p.Val1951=
XM_011514691.1:c.5851_5852delinsGT	XP_011512993.1:p.Val1951=
XM_011514680.3:c.11776_11777delinsGT	XP_011512982.1:p.Val3926=
XM_011514682.3:c.11638_11639delinsGT	XP_011512984.1:p.Val3880=
XM_011514683.3:c.11134_11135delinsGT	XP_011512985.1:p.Val3712=
XM_011514684.3:c.11065_11066delinsGT	XP_011512986.1:p.Val3689=
XM_011514690.3:c.5851_5852delinsGT	XP_011512992.1:p.Val1951=
XM_011514691.3:c.5851_5852delinsGT	XP_011512993.1:p.Val1951=
XM_017010944.2:c.11776_11777delinsGT	XP_016866433.1:p.Val3926=
XM_017010945.2:c.11701_11702delinsGT	XP_016866434.1:p.Val3901=
XM_017010946.2:c.11581_11582delinsGT	XP_016866435.1:p.Val3861=
XM_017010947.2:c.11512_11513delinsGT	XP_016866436.1:p.Val3838=
XM_017010948.2:c.11065_11066delinsGT	XP_016866437.1:p.Val3689=
XM_017010949.2:c.9916_9917delinsGT	XP_016866438.1:p.Val3306=
NM_138694.4:c.11776_11777delinsGT MANE Select	NP_619639.3:p.Val3926=